Linked Life Data

3403536

Source:http://linkedlifedata.com/resource/pubmed/id/3403536

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
23
pubmed:dateCreated
1988-9-16
pubmed:databankReference
pubmed:abstractText
Previous observations established that fibroblasts from a proband with atypical osteogenesis imperfecta synthesized about equal amounts of normal pro-alpha 2(I) chains and shortened pro-alpha 2(I) chains of type I procollagen. The pro-alpha 2(I) chains were shortened because of an in-frame deletion of most or all of the 18 amino acids encoded by exon 11 of the pro-alpha 2(I) gene. Here it was demonstrated that one of the proband's alleles for the pro-alpha 2(I) gene contained a 19-base pair deletion at the junction of intervening sequence 10 and exon 11 that produced an RNA splicing defect. Probe protection experiments did not reveal any evidence for use of cryptic splice sites, and they suggested that the major species of abnormally spliced pro-alpha 2(I) mRNA in the proband's fibroblasts was completely spliced from exon 10 to 12. The defect in RNA splicing is unusual among RNA-splicing mutations in producing an abnormal polypeptide chain that is used for protomer assembly. Since the probe protection experiments showed the same defect in the mRNA from the fibroblasts of the asymptomatic mother, the mutation was inherited in an autosomal dominant manner but showed variable phenotypic expression in the proband's family.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0021-9258
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
263
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
11407-13
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother.
pubmed:affiliation
Department of Biochemistry and Molecular Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't